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GTR Home > Conditions/Phenotypes > Severe combined immunodeficiency due to CTPS1 deficiency

Severe combined immunodeficiency due to CTPS1 deficiency

Synonyms
Immunodeficiency 24
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

IMD24 is an autosomal recessive immunodeficiency characterized by the impaired capacity of activated T and B cells to proliferate in response to antigen receptor-mediated activation. Patients have early onset of severe chronic viral infections, mostly caused by herpesviruses, including Epstein-Barr virus (EBV) and varicella zoster virus (VZV); they also suffer from recurrent encapsulated bacterial infections, a spectrum typical of a combined deficiency of adaptive immunity (CID) (summary by Martin et al., 2014). [from OMIM]

Available tests

15 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (15 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CTPS, GATD5, GATD5A, IMD24, CTPS1
    Summary: CTP synthase 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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